Variant Results

or

Results for "VPS13B"

Variant Events: 79

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

VPS13B

63-343

chr8:
100029719-100029719

T

G

intronic

De novo

-

Michaelson2012 G

VPS13B

1-0755-003

chr8:
100281357-100281357

T

C

intronic

De novo

-

Yuen2017 G

VPS13B

74-0075

chr8:
100264852-100264852

G

T

intronic

De novo

-

Michaelson2012 G

VPS13B

11341.p1

chr8:
100846937-100846937

C

T

intronic

De novo

-

Turner2016 G

VPS13B

AU4152303

chr8:
100325762-100325762

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

14153.p1

chr8:
100636265-100636265

G

T

intronic

De novo

-

Turner2016 G

VPS13B

Li2017:20766

chr8:
100880652-100880652

C

T

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.C11426T
c.C11351T

p.P3809L
p.P3784L

33.0

-

Li2017 T

VPS13B

1-0464-003

chr8:
100594820-100594820

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VPS13B

2-1428-003

chr8:
100302975-100302975

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VPS13B

2-0300-003

chr8:
100499478-100499478

A

G

intronic

De novo

-

Yuen2017 G

VPS13B

2-0057-003

chr8:
100038654-100038654

C

A

intronic

De novo

-

Yuen2017 G

VPS13B

2-1434-003

chr8:
100471263-100471263

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

Li2017:19625

chr8:
100587894-100587894

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G5033A
c.G4958A

p.R1678Q
p.R1653Q

25.9

2.48E-5

Li2017 T

VPS13B

3-0396-000

chr8:
100086201-100086201

A

G

intronic

De novo

-

Yuen2016 G

VPS13B

Li2017:16286

chr8:
100887863-100887867

AAAAT

A

exonic

Unknown

frameshift deletion

NM_017890
NM_152564

c.12039_12042del
c.11964_11967del

p.K4013fs
p.K3988fs

-

8.239E-6

Li2017 T

VPS13B

7-0100-004

chr8:
100364443-100364446

GTAA

G

intronic

De novo

-

Yuen2017 G

VPS13B

AU3371301

chr8:
100377149-100377149

C

G

intronic

De novo

-

Yuen2017 G

VPS13B

PN400417

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

VPS13B

2-1155-003

chr8:
100875359-100875359

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VPS13B

PN400499

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

VPS13B

AU005214

chr8:
100538106-100538106

G

C

intronic

De novo

-

Yuen2017 G

VPS13B

2-1315-003

chr8:
100300667-100300667

C

A

intronic

De novo

-

Yuen2017 G

VPS13B

Li2017:23092

chr8:
100733201-100733201

C

T

exonic

Unknown

stopgain

NM_017890
NM_152564

c.C7051T
c.C6976T

p.R2351X
p.R2326X

50.0

8.241E-6

Li2017 T

VPS13B

Cukier2014:17678

chr8:
100832259-100832259

A

G

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.A8978G
c.A8903G

p.N2993S
p.N2968S

23.7

0.0032

Cukier2014 E

VPS13B

1-0119-004

chr8:
100542758-100542759

CT

C

intronic

De novo

-

Yuen2017 G

VPS13B

2-1619-003

chr8:
100795771-100795771

A

G

intronic

De novo

-

Yuen2017 G

VPS13B

PN400341

chr8:
100654570-100654570

C

T

exonic

Unknown

stopgain

NM_017890
NM_152564

c.C5827T
c.C5752T

p.R1943X
p.R1918X

46.0

-

Leblond2019 E

VPS13B

AU2108302

chr8:
100128610-100128610

T

G

intronic

De novo

-

Yuen2017 G

VPS13B

2-1620-004

chr8:
100269483-100269483

G

T

intronic

De novo

-

Yuen2017 G

VPS13B

AU4344301

chr8:
100336849-100336849

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

2-1460-003

chr8:
100388818-100388818

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

2-1456-004

chr8:
100644716-100644716

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

PN400457

chr8:
100883013-100883018

GTATTT

G

exonic

Unknown

frameshift deletion

NM_017890
NM_152564

c.11469_11473del
c.11394_11398del

p.G3823fs
p.G3798fs

-

Leblond2019 E

VPS13B

1-0320-004

chr8:
100681426-100681426

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

Li2017:4

chr8:
100871586-100871586

G

C

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G10997C
c.G10922C

p.S3666T
p.S3641T

21.1

-

Li2017 T

VPS13B

1-0325-003

chr8:
100437047-100437047

C

T

intronic

De novo

-

Yuen2017 G

VPS13B

2-1460-003

chr8:
100429990-100429990

C

G

intronic

De novo

-

Yuen2017 G

VPS13B

A28

chr8:
100156292-100156293

CT

C

intronic

De novo

-

Wu2018 G

VPS13B

2-1094-005

chr8:
100026551-100026551

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

iHART1776

chr8:
100830757-100830757

C

T

exonic

Paternal

stopgain

NM_017890
NM_152564

c.C8515T
c.C8440T

p.R2839X
p.R2814X

50.0

8.241E-6

Ruzzo2019 G

VPS13B

2-0068-003

chr8:
100830821-100830821

A

G

intronic

De novo

-

Yuen2017 G

VPS13B

iHART1925

chr8:
100654495-100654497

CTT

C

exonic

Maternal

frameshift deletion

NM_017890
NM_152564

c.5753_5754del
c.5678_5679del

p.L1918fs
p.L1893fs

-

Ruzzo2019 G

VPS13B

7-0059-003

chr8:
100191146-100191146

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

7-0059-003

chr8:
100826940-100826940

A

G

intronic

De novo

-

Yuen2017 G

VPS13B

PN400424

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

VPS13B

iHART2747

chr8:
100847523-100847523

T

TA

exonic

Maternal

frameshift insertion

NM_017890
NM_152564

c.9789dupA
c.9714dupA

p.V3263fs
p.V3238fs

-

Ruzzo2019 G

VPS13B

Li2017:17649

chr8:
100403908-100403908

C

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.C3058A
c.C3058A

p.P1020T
p.P1020T

31.0

-

Li2017 T

VPS13B

iHART3160

chr8:
100133467-100133468

TA

T

exonic

Paternal

frameshift deletion

NM_015243
NM_017890
NM_152564
NM_181661

c.1001delA
c.1001delA
c.1001delA
c.1001delA

p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs

-

Ruzzo2019 G

VPS13B

iHART3163

chr8:
100133467-100133468

TA

T

exonic

Paternal

frameshift deletion

NM_015243
NM_017890
NM_152564
NM_181661

c.1001delA
c.1001delA
c.1001delA
c.1001delA

p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs

-

Ruzzo2019 G

VPS13B

2-0022-005

chr8:
100565303-100565303

C

G

intronic

De novo

-

Yuen2017 G

VPS13B

Li2017:17674

chr8:
100871586-100871586

G

C

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G10997C
c.G10922C

p.S3666T
p.S3641T

21.1

-

Li2017 T

VPS13B

AU4093304

chr8:
100384473-100384473

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

5-0105-003

chr8:
100156961-100156961

T

C

intronic

De novo

-

Yuen2017 G

VPS13B

SP0020352

chr8:
100523754-100523754

A

AT

intronic

De novo

-

2.0E-4

Fu2022 E

VPS13B

SP0072654

chr8:
100493958-100493958

A

C

exonic

De novo

nonsynonymous SNV

NM_017890
NM_152564

c.A3798C
c.A3798C

p.R1266S
p.R1266S

11.74

-

Fu2022 E

VPS13B

1-0065-005

chr8:
100743477-100743477

C

T

intronic

De novo

-

Yuen2017 G

VPS13B

2-1323-003

chr8:
100843101-100843101

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

AU007503

chr8:
100264852-100264852

G

T

intronic

De novo

-

Yuen2017 G

VPS13B

AU009904

chr8:
100602118-100602118

T

C

intronic

De novo

-

Yuen2017 G

VPS13B

AU4356302

chr8:
100707442-100707442

T

C

intronic

De novo

-

Yuen2017 G

VPS13B

1-0554-003

chr8:
100085424-100085424

T

TA

intronic

De novo

-

Yuen2017 G

VPS13B

AU050910

chr8:
100111603-100111603

T

C

intronic

De novo

-

Yuen2017 G

VPS13B

2-1617-003

chr8:
100247292-100247292

C

T

intronic

De novo

-

Yuen2017 G

VPS13B

AU4356302

chr8:
100707439-100707439

G

T

intronic

De novo

-

Yuen2017 G

VPS13B

DEASD_3001_001

chr8:
100844842-100844842

A

AC

exonic

De novo

frameshift insertion

NM_017890
NM_152564

c.9652dupC
c.9577dupC

p.V3217fs
p.V3192fs

-

Fu2022 E

VPS13B

PN400380

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

VPS13B

AU-17800

chr8:
100205240-100205240

T

G

exonic

Inherited

nonsynonymous SNV

NM_015243
NM_017890
NM_152564

c.T2470G
c.T2470G
c.T2470G

p.S824A
p.S824A
p.S824A

3.772

2.0E-4

Yu2013 E

VPS13B

1-0455-003

chr8:
100488224-100488224

G

A

intronic

De novo

-

Yuen2017 G

VPS13B

2-1280-003

chr8:
100030011-100030011

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VPS13B

Yalcintepe2021:5

chr8:
100866182-100866182

C

T

exonic

Maternal

nonsynonymous SNV

NM_017890
NM_152564

c.C10640T
c.C10565T

p.T3547I
p.T3522I

19.16

5.766E-5

Yalcintepe2021 T

VPS13B

AU-21100

chr8:
100887727-100887727

G

GC

exonic

Inherited

frameshift insertion

NM_017890
NM_152564

c.11903dupC
c.11828dupC

p.A3968fs
p.A3943fs

-

8.237E-6

Yu2013 E

VPS13B

PN400391

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

VPS13B

12975.p1

chr8:
100168821-100168821

G

A

exonic

De novo

synonymous SNV

NM_015243
NM_017890
NM_152564

c.G2058A
c.G2058A
c.G2058A

p.R686R
p.R686R
p.R686R

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

VPS13B

1-0885-003

chr8:
100217481-100217481

A

G

intronic

De novo

-

Yuen2017 G

VPS13B

3-0134-000

chr8:
100313478-100313478

C

T

intronic

De novo

-

Yuen2017 G

VPS13B

AU039304

chr8:
100226788-100226788

C

T

intronic

De novo

-

Yuen2017 G

VPS13B

SSC06417

chr8:
100168821-100168821

G

A

exonic

De novo

synonymous SNV

NM_015243
NM_017890
NM_152564

c.G2058A
c.G2058A
c.G2058A

p.R686R
p.R686R
p.R686R

-

Fu2022 E
Lim2017 E

VPS13B

2-1195-003

chr8:
100537148-100537148

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

VPS13B

PN400259

chr8:
100874030-100874030

G

A

exonic

Unknown

nonsynonymous SNV

NM_017890
NM_152564

c.G11146A
c.G11071A

p.A3716T
p.A3691T

36.0

0.0041

Leblond2019 E

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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